Incidental Mutation 'R6404:Lsm8'
ID 518890
Institutional Source Beutler Lab
Gene Symbol Lsm8
Ensembl Gene ENSMUSG00000044155
Gene Name LSM8 homolog, U6 small nuclear RNA associated
Synonyms Lsm8, 2010003I05Rik
MMRRC Submission 044549-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R6404 (G1)
Quality Score 118.008
Status Validated
Chromosome 6
Chromosomal Location 18848634-18854051 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 18848739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 3 (S3F)
Ref Sequence ENSEMBL: ENSMUSP00000057238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056398] [ENSMUST00000201141]
AlphaFold Q6ZWM4
Predicted Effect possibly damaging
Transcript: ENSMUST00000056398
AA Change: S3F

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000057238
Gene: ENSMUSG00000044155
AA Change: S3F

DomainStartEndE-ValueType
Sm 3 72 2.83e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180863
Predicted Effect probably benign
Transcript: ENSMUST00000201141
SMART Domains Protein: ENSMUSP00000144884
Gene: ENSMUSG00000044155

DomainStartEndE-ValueType
Sm 8 76 1.3e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202542
Meta Mutation Damage Score 0.3945 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,484,892 (GRCm39) D1540G probably benign Het
Adamts7 A T 9: 90,062,509 (GRCm39) probably null Het
Apol10a C A 15: 77,373,241 (GRCm39) F292L probably benign Het
Atp13a4 A T 16: 29,290,719 (GRCm39) Y243* probably null Het
Cc2d2a A G 5: 43,861,416 (GRCm39) N660D possibly damaging Het
Ccdc57 T C 11: 120,785,538 (GRCm39) T466A probably benign Het
Ccdc74a A T 16: 17,467,889 (GRCm39) N249Y possibly damaging Het
Cd3e T A 9: 44,912,426 (GRCm39) E106V probably damaging Het
Col4a1 G T 8: 11,257,409 (GRCm39) probably null Het
Csmd2 T C 4: 128,415,743 (GRCm39) Y2691H possibly damaging Het
Dmxl2 T C 9: 54,282,820 (GRCm39) R2786G probably damaging Het
Dpyd A G 3: 119,059,606 (GRCm39) T768A probably benign Het
Endou T A 15: 97,610,012 (GRCm39) Q428L probably damaging Het
Fam13c T C 10: 70,284,646 (GRCm39) probably null Het
Fhip1b G A 7: 105,034,198 (GRCm39) R478* probably null Het
Frmd5 G A 2: 121,379,699 (GRCm39) R70* probably null Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gm4131 T A 14: 62,718,598 (GRCm39) R3* probably null Het
Habp4 A G 13: 64,330,000 (GRCm39) T302A possibly damaging Het
Ift81 A T 5: 122,749,069 (GRCm39) D27E probably damaging Het
Iqcf3 T C 9: 106,430,083 (GRCm39) I107V probably benign Het
Iqgap2 A G 13: 95,865,985 (GRCm39) I298T probably benign Het
Lilrb4b A G 10: 51,361,825 (GRCm39) D199G probably damaging Het
Meox1 T C 11: 101,769,482 (GRCm39) E238G probably benign Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Neb T C 2: 52,097,737 (GRCm39) Y901C probably damaging Het
Nfat5 A G 8: 108,097,220 (GRCm39) M121V probably benign Het
Notch2 G A 3: 97,989,314 (GRCm39) G278D probably damaging Het
Or4c121 T C 2: 89,023,906 (GRCm39) I157M probably damaging Het
Pbld2 T A 10: 62,890,107 (GRCm39) S172T probably damaging Het
Pla2g7 T A 17: 43,905,688 (GRCm39) Y83N probably damaging Het
Plxnb1 A T 9: 108,945,705 (GRCm39) I2079F probably damaging Het
Rara T C 11: 98,851,839 (GRCm39) F17L probably benign Het
Skint5 G A 4: 113,799,806 (GRCm39) T121I probably damaging Het
Slco6c1 T C 1: 97,046,330 (GRCm39) Y251C probably damaging Het
Slmap T A 14: 26,143,566 (GRCm39) probably null Het
Uba2 A T 7: 33,853,985 (GRCm39) L319Q probably damaging Het
Vmn2r96 A T 17: 18,817,793 (GRCm39) I457F probably damaging Het
Zfp57 A T 17: 37,320,716 (GRCm39) H190L probably damaging Het
Zfp738 A G 13: 67,819,179 (GRCm39) S271P possibly damaging Het
Zp2 A T 7: 119,734,765 (GRCm39) H474Q possibly damaging Het
Other mutations in Lsm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01519:Lsm8 APN 6 18,851,699 (GRCm39) missense probably damaging 1.00
IGL02529:Lsm8 APN 6 18,851,651 (GRCm39) missense probably damaging 1.00
LCD18:Lsm8 UTSW 6 18,854,320 (GRCm39) unclassified probably benign
LCD18:Lsm8 UTSW 6 18,844,315 (GRCm39) unclassified probably benign
R1496:Lsm8 UTSW 6 18,849,658 (GRCm39) missense probably benign 0.00
R2403:Lsm8 UTSW 6 18,849,643 (GRCm39) missense probably benign 0.04
R4184:Lsm8 UTSW 6 18,849,604 (GRCm39) intron probably benign
R5630:Lsm8 UTSW 6 18,851,672 (GRCm39) missense probably damaging 1.00
R6345:Lsm8 UTSW 6 18,853,644 (GRCm39) missense probably damaging 1.00
R7936:Lsm8 UTSW 6 18,849,658 (GRCm39) missense probably benign 0.00
R8744:Lsm8 UTSW 6 18,853,638 (GRCm39) missense probably benign
R8883:Lsm8 UTSW 6 18,851,747 (GRCm39) missense probably benign 0.20
R9014:Lsm8 UTSW 6 18,853,632 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TGACCTCTCCATAAACTGCCTG -3'
(R):5'- ACACCGAGATCTGTGCTGTG -3'

Sequencing Primer
(F):5'- TGCGCATGCCCACTAGTCAG -3'
(R):5'- CTGTGGGTGCAAAAAGCCC -3'
Posted On 2018-05-24